PPP4R3C
Chr Xprotein phosphatase 4 regulatory subunit 3C
Also known as: FLFL3P, PPP4R3CP, SMEK3P, smk1
The PPP4R3C protein is predicted to function as a protein phosphatase activator within the protein phosphatase 4 complex, involved in DNA damage response and regulation of double-strand break repair in the nucleus. Mutations in PPP4R3C cause neurodevelopmental disorders with intellectual disability and developmental delay, typically following an autosomal recessive inheritance pattern. Affected individuals present in early childhood with global developmental delays and may have additional neurological features.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PPP4R3C · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
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External Resources
Links to major genomics databases and tools